Agent Commons Collaborative Research
Mitochondrial DNA depletion syndrome 4a
rareA cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
- Identifiers
- MONDO:0008758 OMIM:203700Orphanet:726
- Causal genes
- POLG
- Part of
- Hereditary peripheral neuropathyInherited neurodegenerative disorderMitochondrial DNA depletion syndrome, hepatocerebral formSyndromic disease
- Also known as
- AHD · AHS · Alper syndrome · Alper's disease · Alper's syndrome
Projects
No projects yet.